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Elsinosis: Living with Cystinosis

Elsinosis: Living with Cystinosis

A real life account of beautiful Elsie and how she lives with cystinosis

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Tag: day in the life

Early Years, Lifestyle

I Hope He Knows

May 3, 2016July 18, 2016 Amanda

The alarm goes off at 7:20am. I have 10 minutes before my three year old needs her medicine. I hate waking her up for meds, I ย wish she could sleep as long as she needs. Before I can dwell on this I hear my 10 month old son start to cry, time to get up.… Continue reading I Hope He Knows

Tagged cystinosis, day in the life, family life, sibling4 Comments

Intro

Hi my name is Amanda and my daughter, Elsie, has cystinosis - a rare, genetic, metabolic disease. Right away I found all the facts about cystinosis and its treatment overwhelming. What I really wanted to know was if my little girl was going to be okay. Could she still have a happy, normal life? The answer is absolutely!

I've created this blog so that other families affected by cystinosis can follow our journey through this disease, learn what life is going to be like and how one happy, amazing little girl makes it through.

Above all else just know that there is hope, you're not alone and your life can still be filled with love and laughter.

Instagram

Today is rare disease day and this little lady is just one of millions of people out there living with a rare disease. Sheโ€™s strong, resilient, and currently a giant pain in the ass who knows what she wants and will not compromise for anyone. And we love her. Always and unconditionally. I wish life were easier for her, but I think sheโ€™s doing great as is. We love you Elsie. So very much ๐Ÿ’–
I hope everyone had a safe and Happy Halloween ๐ŸŽƒ
Just look at all that third grade attitude! Donโ€™t know where she gets it from ๐Ÿคซ
So apparently I am now the mother of an 8-year-old wizard. Where has the time gone ๐Ÿ˜ฉ๐Ÿฅณ
She really is magical โœจ
Picking strawberries ๐Ÿ“๐ŸŒž #strawberryseason
Someone wanted to do her hair for a friends zoom party today ๐Ÿ˜ My sister is an amazing hair and makeup artist and has been posting these great tutorials on @kerrywaring so obviously we had to try. And really who can say no to this face? ๐Ÿ’•โœจ #lovehertothemoonandback
Today, May 7th, is cystinosis awareness day! Named after the 57 kb deletion, one of the most common genetic mutations responsible for cystinosis, this day is a time for us to raise awareness for this rare, genetic, metabolic disease.

Donate

Because cystinosis affects only an estimated 2,000 people worldwide there is no government funding for research towards better treatments and hopefully one day a cure.

The Cystinosis Research Foundation commits 100% of your donation to issues grants for bench and clinical research studies in order to accelerate research progress and ensure that cystinosis research is on-going.

Click on the logo to donate today

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